The good news is, the reports are in, at least most of them (we are still waiting on the genetic testing). The bad news is, they are written in "genius-ese". I am so deeply thankful for so many of my family and friends who have been praying daily for our sweet Clara, and it is for this reason that I am going to go ahead and post what little we know. I was going to wait until I had all the facts, but I have promised to keep you all up-to-date....so here goes!
We received the reports in a secure e-mail attachment on Tuesday, late in the afternoon. As we suspected, it is a lot to digest. There were 22 attachments, but the first one said, "Summary", so we opened that one first. I had to read it three times (all 18 pages of it) for anything to make sense. I called my mother-in-law, the Nurse Practitioner, and Dr. Aldridge, our Pediatrician, right away. The problem is that this stuff is like the rocket science of medicine. While individual reports may make sense, putting the pieces together is not so easy. Any of this could change once we meet with the neurogeneticist again, but for now, it looks like Clara does have a Mitochondrial Disease, although it looks like they are recommending further testing to narrow down which one she has. That group of diseases is VERY broad. Her body seems to stay in a state of ketosis, which is the state of a runner's body after a marathon. That alone would explain her pain and fatigue. There were many warnings about children with these diseases and keeping them free of viral and bacterial infections. Apparently, neurological problems can be triggered if they are sick...especially with fever, and the letter said that if she got sick, even with a minor illness, she may have to be hospitalized for monitoring. Thankfully, we are rarely sick; I can't remember the last time she had a fever. That alone makes me so thankful God called us to homeschool. There was a LOOOONG list of medicines she cannot take. While I am trying not to get too worked up about anything, especially since I am not absolutely sure about most of this, there was one thing that really scared me. Many of you remember my post about the neurologist visit we had two weeks after her biopsy where her reflexes were abnormal. There was a part of the summary letter that explained mitochondrial diseases and it talked about the way they affect the body and how these disease attack systems of the body. The one attacked most commonly is the nervous system. Once again....sick at my stomach. I can't go on too much here without crying, but please keep praying. She is making such great progress in physical therapy right now, I just have to believe this is all going to be okay.
What I DO know is that God is still the Great Physician and he knew Clara before one of her days came to be. He has her in His hand and, as hard as it is for me to fathom, He loves her more than I do and He has a perfect plan for her sweet little life. I believe with all my heart that He sent her here for a reason and I can't wait to see how He uses her! I also know that all things work together for good to those who love the Lord. My prayer is that He would use this for HIS glory. We continue to covet your prayers. We have an appointment with her neurologist the day before Thanksgiving (I am trying to get that moved up) and I need to contact the neurogeneticist's office today to set something up . While they may be the ones who understand all of this here on earth, God already knows...He didn't need a biopsy to show him. None of this has surprised Him at all.
Please continue to pray for COMPLETE HEALING for Clara and and for wisdom for us as we continue through this process. There is still so much we don't know. Thankfully, she doesn't seem to be in as much pain lately, but she has been very fatigued. Thank you for your love and concern. We will post more as we know it.
We have a friend who is a biochemist who took a look at the report. He understood it (it's all biochemistry) and basically, he just said that her enzymes are mutating, but without the genetic reports, we don't know why. Apparently, that is the simple version. :-) I am so thankful for the people God has put in my life! Basically, so far, it seems everything else I wrote and understand is pretty much accurate. Also, there is no point in scheduling these appointments without the genetic testing, and so, we wait....again.
We Love You All!